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Linkage markers at or close to the genes encoding the three major fibrillar collagens were used to analyze the segregation of these loci in six pedigrees with dominantly inherited Marfan syndrome. Four pedigrees were discordant at one of the Type I collagen loci (COL1A2), and, of these, two were discordant at the other Type I locus (COL1A1). The Marfan syndrome also segregated independently of the structural loci for Type II and Type III collagen in these two families. This is evidence against the Marfan syndrome being, in general, due to mutations in the major fibrillar collagen genes.


Journal article


Am J Hum Genet

Publication Date





1071 - 1082


Adolescent, Adult, Child, Collagen, Female, Genes, Genetic Linkage, Genetic Markers, Humans, Male, Marfan Syndrome, Pedigree, Recombination, Genetic